Evidence map›Paper›PMID 22306695›Full record

ArticleBone2012

Genetic variation in TRPS1 may regulate hip geometry as well as bone mineral density.

Cheryl L Ackert-Bicknell, Serkalem Demissie, Shirng-Wern Tsaih, Wesley G Beamer, L Adrienne Cupples, Beverly J Paigen, Yi-Hsiang Hsu, Douglas P Kiel, David Karasik

Open access · greenAbstract read
In one paragraph

Article in Bone, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.2field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.Developmental dynamics : an official publication of the American Association of Anatomists · 2026
    Review
  3. Review
  4. Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023
    Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Genetics of aging bone.Mammalian genome : official journal of the International Mammalian Genome Society · 2016
    Review
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Cheryl L Ackert-BicknellThe Jackson Laboratory, Bar Harbor, ME 04609, USA. cheryl.ackertb@jax.org
Serkalem Demissie
Shirng-Wern Tsaih
Wesley G Beamer
L Adrienne Cupples
Beverly J Paigen
Yi-Hsiang Hsu
Douglas P Kiel
David Karasik
Jackson Laboratory · USBoston University · USHarvard University · USHebrew SeniorLife · US

Funding

RISK FACTORS FOR VERTEBRAL FRACTURE AND BONE LOSSR01AR041398 · NIAMS · RHODE ISLAND HOSPITAL (PROVIDENCE, RI) · PI KIEL, DOUGLAS P. · 1991 to 2025
$16.1M
GENOMICS OF CARDIOVASCULAR DEVELOPMENT, ADAPTIONU01HL066582 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI SEIDMAN, JONATHAN G · 2000 to 2004
$14.9M
GENETIC AND DYNAMIC ANALYSES OF PEAK BONE DENSITY IN MICER01AR043618 · NIAMS · JACKSON LABORATORY · PI DONAHUE, LEAH RAE B · 1996 to 2009
$4.4M
REPRODUCTIVE BIOLOGYT32HD007065 · NICHD · JACKSON LABORATORY · PI BRAUN, ROBERT E · 1985 to 2020
$2.6M
NEW WAYS TO FIND HUMAN BMD GENES USING MOUSE QTL MAPPINGR21AR053992 · NIAMS · HEBREW REHABILITATION CENTER FOR AGED · PI KARASIK, DAVID · 2007 to 2008
$511k
Examination of Co-inheritance of Bone Mineral Density, IGF-1 and LifespanF32AG034019 · NIA · JACKSON LABORATORY · PI ACKERT-BICKNELL, CHERYL LYNNE · 2009 to 2010
$77k
GENETIC AND CELLULAR REGULATION OF PEAK BONE DENSITYR55AR043618 · NIAMS · JACKSON LABORATORY · PI BEAMER, WESLEY G · 1995 to 1995
–
THE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
–
NHLBI NIH HHS 1U01 HL066582NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01-HC-25195NHLBI NIH HHS U01 HL066582NIAMS NIH HHS AR053992NIAMS NIH HHS AR43618NIAMS NIH HHS R01 AR041398NIAMS NIH HHS R01 AR043618NIAMS NIH HHS R21 AR053992NIA NIH HHS AG034019NIA NIH HHS AR/AG41398NIA NIH HHS F32 AG034019NICHD NIH HHS T32 HD007065
6 · The paper itself

Abstract

Trps1 has been proposed as a candidate gene for a mouse bone mineral density (BMD) QTL on Chromosome (Chr) 15, but it remained unclear if this gene was associated with BMD in humans. We used newly available data and advanced bioinformatics techniques to confirm that Trps1 is the most likely candidate gene for the mouse QTL. In short, by combining the raw genetic mapping data from two F2 generation crosses of inbred strains of mice, we narrowed the 95% confidence interval of this QTL down to the Chr 15 region spanning from 6 to 24cM. This region contains 131 annotated genes. Using block haplotyping, all other genes except Trps1 were eliminated as candidates for this QTL. We then examined associations of 208 SNPs within 10kb of TRPS1 with BMD and hip geometry, using human genome-wide association study (GWAS) data from the GEFOS consortium. After correction for multiple testing, six TRPS1 SNPs were significantly associated with femoral neck BMD (P=0.0015-0.0019; adjusted P=0.038-0.048). We also found that three SNPs were highly associated with femoral neck width in women (rs10505257, P=8.6×10(-5), adjusted P=2.15×10(-3); rs7002384, P=5.5×10(-4), adjusted P=01.38×10(-2)). In conclusion, we demonstrated that combining association studies in humans with murine models provides an efficient strategy to identify new candidate genes for bone phenotypes.

Indexed as

Genetic VariationAnimalsBone DensityChromosomes, MammalianCrosses, GeneticDNA-Binding ProteinsFemaleGATA Transcription FactorsGenetic Association StudiesGenome-Wide Association StudyHaplotypesHipHumansLod ScoreMaleMiceDNA-Binding ProteinsGATA Transcription FactorsRepressor ProteinsTranscription FactorsTRPS1 protein, humanTrps1 protein, mouse

Identifiers

PMID22306695
PMCPMC3322322
OpenAlexW2020420058

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.